N41S (p.Asn41Ser) variant of CRB1 (Protein crumbs homolog 1)
N41S (p.Asn41Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N41S (p.Asn41Ser) variant details
- p.Asn41Ser
- TOPMed rs1046198745
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.37
- MetaLR 0.84
- MetaSVM 0.66
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available